rs77188391
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Cystic Fibrosis carrier |
| Make rs77188391(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117534366 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77188391 |
| dbSNP (classic) | rs77188391 |
| ClinGen | rs77188391 |
| ebi | rs77188391 |
| HLI | rs77188391 |
| Exac | rs77188391 |
| Gnomad | rs77188391 |
| Varsome | rs77188391 |
| LitVar | rs77188391 |
| Map | rs77188391 |
| PheGenI | rs77188391 |
| Biobank | rs77188391 |
| 1000 genomes | rs77188391 |
| hgdp | rs77188391 |
| ensembl | rs77188391 |
| geneview | rs77188391 |
| scholar | rs77188391 |
| rs77188391 | |
| pharmgkb | rs77188391 |
| gwascentral | rs77188391 |
| openSNP | rs77188391 |
| 23andMe | rs77188391 |
| SNPshot | rs77188391 |
| SNPdbe | rs77188391 |
| MSV3d | rs77188391 |
| GWAS Ctlg | rs77188391 |
| Max Magnitude | 3 |
Cystic fibrosis; c.579+1G>T
named i4000315 and i5010951 by 23andMe
FTDNA & MyHeritage name: VG07S44986
| ClinVar | |
|---|---|
| Risk | rs77188391(T;T) |
| Alt | rs77188391(T;T) |
| Reference | Rs77188391(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117174420G>T |
| CLNSRC | CFTR2 Cystic Fibrosis Mutation Database |
| CLNACC | RCV000043566.5, RCV000321243.1, |
[PMID 7689008] Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.
[PMID 15371902
] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
